Cadeia da sobrevivência

Neste objeto, Cadeia de Sobrevivência, é abordado como o profissional deve realizar cada passo da “corrente de sobrevivência” otimizadamente uma vez que as chances de sobrevivência das vítimas de RCP crescer muito se observarmos os quatro elos da corrente: acesso rápido ao serviço de emergência, manobras de RCP imadiatas, rápida desvibrilação e cuidados avançados sem demora. Na sequencia trata da utilização do Suporte Básico de Vida e destaca que durante o processo de reanimação mecânico utilizado para manter a circulação sanguínea e as trocas gasosas, evitando sequelas e a morte da vítima de uma parada cardiorrespiratória (PCR), até que medidas sejam tomadas para que o coração retome a automaticidade. Para fechar salienta que após as fases do atendimento inicial o profissional deve dar continuidade seguindo as manobras de ressuscitação cardiopulmonar e procurar praticar todas as nove etapas durante um atendimento de urgência dessa natureza. Unidade 2 do módulo 15 que compõe o Curso de Especialização em Saúde da Família.

Adesão dos pacientes ao tratamento da hipertensão arterial sistêmica na unidade Homero Gil, em Betim - Minas Gerais

A hipertensão arterial sistêmica é uma patologia cujo controle contínuo visa prevenção de alterações irreversíveis no organismo e complicações cardiovasculares. Na unidade básica de saúde Homero Gil, nota-se a dificuldade no controle da pressão arterial dos hipertensos atribuída à não adesão do paciente ao regime terapêutico. Este estudo tem por objetivo elaborar um projeto de intervenção para uma melhor adesão dos pacientes da equipe de saúde da família Beta ao tratamento de hipertensão arterial sistêmica na Unidade de Saúde da Família Homero Gil, no município de Betim-MG. O estudo utilizou os passos propostos do método simplificado do Planejamento Estratégico Situacional, incluindo revisão de literatura, utilizando-se os bancos de dados Scientific Electronic Libray Online (SciELO), Literatura Latino Americana e do Caribe em Ciências de Saúde (LILACS) e sites do município e do Ministério da Saúde. Também foram analisados bancos de dados secundários UBS Homero Gil. Verificou-se a importância de ações interdisciplinares para o manejo e o controle da hipertensão arterial e de outras doenças cardiovasculares, sendo que essas ações devem considerar o indivíduo hipertenso em todas as suas nuances sociais e culturais, valorizando seu ambiente e suas condutas individuais e coletivas. Com a implantação do projeto, espera-se uma equipe mais consciente e comprometida com a população abrangente e que pacientes com hipertensão arterial sistêmica possam ser informados sobre sua doença e como tratá-la, sobre estilos de vida e hábitos mais saudáveis.

Plano de intervenção: educação preventiva para a qualidade de vida de pacientes com hipertensão arterial sistêmica na UPA Homero Gil, em Betim - Minas Gerais

As doenças crônicas não transmissíveis são hoje responsáveis pela maioria das doenças e mortes em muitos países, entre elas, a hipertensão arterial sistêmica. Os desafios do controle e prevenção da hipertensão arterial sistêmica e suas complicações fazem parte da rotina das equipes de atenção básica, buscando assim, um vínculo entre a comunidade e a clientela registrada, observando-se a diversidade cultural, racial, religiosa e diversos fatores sociais envolvidos. Desta maneira, o projeto de intervenção tem como finalidade orientar os portadores de hipertensão arterial sistêmica sobre as modificações no cotidiano de vida, principalmente, no processo terapêutico e preventivo, destacando aspectos, como a alimentação adequada, sobretudo quanto ao consumo de sal e o controle do peso. A prática de atividades físicas, abandono do tabagismo, diminuição do uso de álcool, pois estes são fatores que necessitam ser abordados e controlados para que os níveis desejados da pressão arterial sejam atingidos. Assim, a criação de projetos que visem sanar esse problema é de suma importância para promover a qualidade de vida do portador de Hipertensão Arterial Sistêmica.

Melhoria da Atençãoaos Usuários com Hipertensão e/ou Diabetes da USF Cadeia Velha I, Rio Branco/AC

Resumo Perez Belkis Gonzalez. Melhoria da Atenção aos Usuários com Hipertensão e/ou Diabetes da USF Cadeia Velha I, Rio Branco/AC. 2015.87f. Trabalho de Conclusão de Curso de Especialização em Saúde da Família, Departamento de Medicina Social, Faculdade de Medicina, Universidade Federal de Pelotas, Pelotas, 2015. Este trabalho teve como objetivo melhorar a qualidade da atenção em saúde aos usuários hipertensos e/ou diabéticos, pertencentes à área de abrangência da USF Cadeia Velha I, Rio Branco/AC.Foi escolhida para esta intervenção, a saúde dos usuários hipertensos e/ou diabéticos pertencentes à área de abrangência de nossa USF por ser grupos priorizados e mais sensíveis, também os resultados podem ser visualizados em menor prazo.O estudo é de caráter interventivo, descritivo e de corte quantitativo e qualitativo onde se propõe um conjunto de objetivos específicos que abarcam a cobertura do programa, qualidade de atendimento, adesão e promoção de saúde dos hipertensos e diabéticos,para os quais se elaboraram metas com as suas respectivas ações implementadas, desenvolvidas, e executadas nos quatro eixos: organização e gestão do serviço, monitoramento e avaliação, engajamento público e qualificação da prática clínica, com seus indicadores que permitiram o monitoramento das metas.Os dados mais relevantes foram relacionados àampliação da cobertura da atenção à saúde dos usuários hipertensos ediabéticos da nossa área de abrangência que foram de 100% para hipertensos e 100% para diabéticos. Esta intervenção trouxe benefícios para a comunidade não somente para aqueles hipertensos e diabéticos vinculadas ao projeto, mas também para a população em geral devido a que ganharam em consciência sobre a importância do acompanhamento dos hipertensos e diabéticos e conhecimento sobre saúde, também trouxe um grande impacto sobre o serviço, ganhando-se em organização dos processos de trabalho que se visualizou numa melhoria na qualidade e integralidade da atenção à saúde deste doente e maior credibilidade por parte da comunidade. Foi muito importante para a equipe de saúde de nossa unidade por que se aprendeu a trabalhar unido, devido aos resultados obtidos, se mantêm esta estrutura incorporada à rotina de atendimento da unidade. Palavras-chave: Atenção primária à saúde; saúde da família; hipertensos; diabéticos; saúde bucal.

Genetic Predictors Of Long-term Response To Growth Hormone (gh) Therapy In Children With Gh Deficiency And Turner Syndrome: The Influence Of A Socs2 Polymorphism.

There is great interindividual variability in the response to GH therapy. Ascertaining genetic factors can improve the accuracy of growth response predictions. Suppressor of cytokine signaling (SOCS)-2 is an intracellular negative regulator of GH receptor (GHR) signaling. The objective of the study was to assess the influence of a SOCS2 polymorphism (rs3782415) and its interactive effect with GHR exon 3 and -202 A/C IGFBP3 (rs2854744) polymorphisms on adult height of patients treated with recombinant human GH (rhGH). Genotypes were correlated with adult height data of 65 Turner syndrome (TS) and 47 GH deficiency (GHD) patients treated with rhGH, by multiple linear regressions. Generalized multifactor dimensionality reduction was used to evaluate gene-gene interactions. Baseline clinical data were indistinguishable among patients with different genotypes. Adult height SD scores of patients with at least one SOCS2 single-nucleotide polymorphism rs3782415-C were 0.7 higher than those homozygous for the T allele (P < .001). SOCS2 (P = .003), GHR-exon 3 (P= .016) and -202 A/C IGFBP3 (P = .013) polymorphisms, together with clinical factors accounted for 58% of the variability in adult height and 82% of the total height SD score gain. Patients harboring any two negative genotypes in these three different loci (homozygosity for SOCS2 T allele; the GHR exon 3 full-length allele and/or the -202C-IGFBP3 allele) were more likely to achieve an adult height at the lower quartile (odds ratio of 13.3; 95% confidence interval of 3.2-54.2, P = .0001). The SOCS2 polymorphism (rs3782415) has an influence on the adult height of children with TS and GHD after long-term rhGH therapy. Polymorphisms located in GHR, IGFBP3, and SOCS2 loci have an influence on the growth outcomes of TS and GHD patients treated with rhGH. The use of these genetic markers could identify among rhGH-treated patients those who are genetically predisposed to have less favorable outcomes.

[the Use Of Fish On Buccal Smear To Investigate Mosaicism With A 45,x Cell Line: Study On Healthy Men And Patients With Disorders Of Sex Development].

To verify whether fluorescence in situ hybridization (FISH) of cells from the buccal epithelium could be employed to detect cryptomosaicism with a 45,X lineage in 46,XY patients. Samples of nineteen 46,XY healthy young men and five patients with disorders of sex development (DSD), four 45,X/46,XY and one 46,XY were used. FISH analysis with X and Y specific probes on interphase nuclei from blood lymphocytes and buccal epithelium were analyzed to investigate the proportion of nuclei containing only the signal of the X chromosome. The frequency of nuclei containing only the X signal in the two tissues of healthy men did not differ (p = 0.69). In all patients with DSD this frequency was significantly higher, and there was no difference between the two tissues (p = 0.38), either. Investigation of mosaicism with a 45,X cell line in patients with 46,XY DSD or sterility can be done by FISH directly using cells from the buccal epithelium.

Growth And Body Composition In Brazilian Female Rhythmic Gymnastics Athletes.

The aim was to analyse the physical growth and body composition of rhythmic gymnastics athletes relative to their level of somatic maturation. This was a cross-sectional study of 136 athletes on 23 teams from Brazil. Mass, standing height and sitting height were measured. Fat-free and fat masses, body fat percentages and ages of the predicted peak height velocity (PHV) were calculated. The z scores for mass were negative during all ages according to both WHO and Brazilian references, and that for standing height were also negative for all ages according to WHO reference but only until 12 years old according to Brazilian reference. The mean age of the predicted PHV was 12.1 years. The mean mass, standing and sitting heights, body fat percentage, fat-free mass and fat mass increased significantly until 4 to 5 years after the age of the PHV. Menarche was reached in only 26% of these athletes and mean age was 13.2 years. The mass was below the national reference standards, and the standing height was below only for the international reference, but they also had late recovery of mass and standing height during puberty. In conclusion, these athletes had a potential to gain mass and standing height several years after PHV, indicating late maturation.

Growth Curves For Girls With Turner Syndrome.

The objective of this study was to review the growth curves for Turner syndrome, evaluate the methodological and statistical quality, and suggest potential growth curves for clinical practice guidelines. The search was carried out in the databases Medline and Embase. Of 1006 references identified, 15 were included. Studies constructed curves for weight, height, weight/height, body mass index, head circumference, height velocity, leg length, and sitting height. The sample ranged between 47 and 1,565 (total = 6,273) girls aged 0 to 24 y, born between 1950 and 2006. The number of measures ranged from 580 to 9,011 (total = 28,915). Most studies showed strengths such as sample size, exclusion of the use of growth hormone and androgen, and analysis of confounding variables. However, the growth curves were restricted to height, lack of information about selection bias, limited distributional properties, and smoothing aspects. In conclusion, we observe the need to construct an international growth reference for girls with Turner syndrome, in order to provide support for clinical practice guidelines.

Homozygous Inactivating Mutation In Nanos3 In Two Sisters With Primary Ovarian Insufficiency.

Despite the increasing understanding of female reproduction, the molecular diagnosis of primary ovarian insufficiency (POI) is seldom obtained. The RNA-binding protein NANOS3 poses as an interesting candidate gene for POI since members of the Nanos family have an evolutionarily conserved function in germ cell development and maintenance by repressing apoptosis. We performed mutational analysis of NANOS3 in a cohort of 85 Brazilian women with familial or isolated POI, presenting with primary or secondary amenorrhea, and in ethnically-matched control women. A homozygous p.Glu120Lys mutation in NANOS3 was identified in two sisters with primary amenorrhea. The substituted amino acid is located within the second C2HC motif in the conserved zinc finger domain of NANOS3 and in silico molecular modelling suggests destabilization of protein-RNA interaction. In vitro analyses of apoptosis through flow cytometry and confocal microscopy show that NANOS3 capacity to prevent apoptosis was impaired by this mutation. The identification of an inactivating missense mutation in NANOS3 suggests a mechanism for POI involving increased primordial germ cells (PGCs) apoptosis during embryonic cell migration and highlights the importance of NANOS proteins in human ovarian biology.

Effects Of Programmed Physical Activity On Body Composition In Post-pubertal Schoolchildren.

To assess body composition modifications in post-pubertal schoolchildren after practice of a physical activity program during one school year. The sample consisted of 386 students aged between 15 and 17 years and divided into two groups: the study group (SG) comprised 195 students and the control group (CG), 191. The SG was submitted to a physical activity program and the CG attended conventional physical education classes. Body composition was assessed using body mass index (BMI), percentage of body fat (%BF), fat mass (FM), and lean mass (LM). A positive effect of the physical activity program on body composition in the SG (p<0.001) was observed, as well as on the interaction time x group in all the variables analyzed in both genders. A reduction in %BF (mean of differences = -5.58%) and waist circumference (-2.33cm), as well as an increase in LM (+2.05kg) were observed in the SG for both genders, whereas the opposite was observed in the CG. The practice of programmed physical activity promotes significant reduction of body fat in post-pubertal schoolchildren.

Preserved Fertility In A Patient With Gynecomastia Associated With The P.pro695ser Mutation In The Androgen Receptor.

The androgen insensitivity syndrome (AIS) is described as a dysfunction of the androgen receptor (AR) in 46,XY individuals, which can be associated with mutations in the AR gene or can be due to unknown mechanisms. Different mutations in AIS generally cause variable phenotypes that range from a complete hormone resistance to a mild form usually associated with male infertility. The purpose of this study was to search for mutations in the AR gene in a fertile man with gynecomastia and to evaluate the influence of the mutation on the AR transactivation ability. Sequencing of the AR gene revealed the p.Pro695Ser mutation. It is located within the AR ligand-binding domain. Bioinformatics analysis indicated a deleterious role, which was verified after testing transactivation activity and N-/C-terminal (N/C) interaction by in vitro expression of a reporter gene and 2-hybrid assays. p.Pro695Ser showed low levels of both transactivation activity and N/C interaction at low dihydrotestosterone (DHT) conditions. As the ligand concentration increased, both transactivation activity and N/C interaction also increased and reached normal levels. Therefore, this study provides functional insights for the p.Pro695Ser mutation described here for the first time in a patient with mild AIS. The expression profile of p.Pro695Ser not only correlates to the patient's phenotype, but also suggests that a high-dose DHT therapy may overcome the functional deficit of the mutant AR.

Long-term Follow-up Of Patients With 46,xy Partial Gonadal Dysgenesis Reared As Males.

Background/Aims. Studies on 46,XY partial gonadal dysgenesis (PGD) have focused on molecular, gonadal, genital, and hormone features; little is known about follow-up. Our aim was to analyze long-term outcomes of PGD. Methods. Retrospective longitudinal study conducted at a reference service in Brazil. Ten patients were first evaluated in the 1990s and followed up until the 2010s; follow-up ranged from 13.5 to 19.7 years. All were reared as males and had at least one scrotal testis; two bore NR5A1 mutations. Main outcomes were: associated conditions, pubertal development, and growth. Results. All patients had normal motor development but three presented cognitive impairment; five had various associated conditions. At the end of the prepubertal period, FSH was high or high-normal in 3/6 patients; LH was normal in all. At the last evaluation, FSH was high or high-normal in 8/10; LH was high or high-normal in 5/10; testosterone was decreased in one. Final height in nine cases ranged from -1.57 to 0.80 SDS. All had spontaneous puberty; only one needed androgen therapy. Conclusions. There is good prognosis for growth and spontaneous pubertal development but not for fertility. Though additional studies are required, screening for learning disabilities is advisable.

Distal 22q11.2 Microduplication Combined With Typical 22q11.2 Proximal Deletion: A Case Report.

The 22q11 chromosomal region contains low copy repeats (LCRs) sequences that mediate non-allelic homologous recombination, which predisposes to copy number variations (CNVs) at this locus. Hemizygous deletions of the proximal 22q11.2 region result in the 22q11.2 deletion syndrome (22q11.2 DS). In addition, 22q11.2 duplications involving the distal LCR22s have been reported. This article describes a patient presenting a 2.5-Mb de novo deletion at proximal 22q11.21 region (between LCRs A-D), combined with a 1.3-Mb maternally inherited duplication at distal 22q11.23 region (between LCRs F-H). The presence of concomitant chromosomal imbalances found in this patient has not been reported previously. Clinical and molecular data were compared with literature, in order to contribute to genotype-phenotype correlation. These findings exemplify the complexity and genetic heterogeneity observed in 22q11.2 deletion syndrome and highlights the difficulty to make genetic counseling and predict phenotypic consequences in these situations.

Investigation Of Genetic Factors Underlying Typical Orofacial Clefts: Mutational Screening And Copy Number Variation.

Typical orofacial clefts (OFCs) comprise cleft lip, cleft palate and cleft lip and palate. The complex etiology has been postulated to involve chromosome rearrangements, gene mutations and environmental factors. A group of genes including IRF6, FOXE1, GLI2, MSX2, SKI, SATB2, MSX1 and FGF has been implicated in the etiology of OFCs. Recently, the role of the copy number variations (CNVs) has been studied in genetic defects and diseases. CNVs act by modifying gene expression, disrupting gene sequence or altering gene dosage. The aims of this study were to screen the above-mentioned genes and to investigate CNVs in patients with OFCs. The sample was composed of 23 unrelated individuals who were grouped according to phenotype (associated with other anomalies or isolated) and familial recurrence. New sequence variants in GLI2, MSX1 and FGF8 were detected in patients, but not in their parents, as well as in 200 control chromosomes, indicating that these were rare variants. CNV screening identified new genes that can influence OFC pathogenesis, particularly highlighting TCEB3 and KIF7, that could be further analyzed. The findings of the present study suggest that the mechanism underlying CNV associated with sequence variants may play a role in the etiology of OFC.

The G209A mutation in the alpha-synuclein gene in Brazilian families with Parkinson's disease

A missense G209A mutation of the alpha-synuclein gene was recently described in a large Contursi kindred with Parkinson's disease (PD). The objective of this study is to determine if the mutation G209A of the alpha-synuclein gene was present in 10 Brazilian families with PD. PD patients were recruited from movement disorders clinics of Brazil. A family history with two or more affected in relatives was the inclusion criterion for this study. The alpha-synuclein G209A mutation assay was made using polymerase chain reaction and the restriction enzyme Tsp45I. Ten patients from 10 unrelated families were studied. The mean age of PD onset was 42.7 years old. We did not find the G209A mutation in our 10 families with PD. Our results suggest that alpha-synuclein mutation G209A is uncommon in Brazilian PD families.